ClinVar Miner

Submissions for variant NM_182961.4(SYNE1):c.14951G>C (p.Arg4984Thr)

gnomAD frequency: 0.00002  dbSNP: rs762212036
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Total submissions: 4
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Submitter RCV SCV Clinical significance Condition Last evaluated Review status Method Comment
Eurofins Ntd Llc (ga) RCV000598392 SCV000703113 uncertain significance not provided 2016-10-28 criteria provided, single submitter clinical testing
Invitae RCV001061005 SCV001225728 uncertain significance Autosomal recessive ataxia, Beauce type; Emery-Dreifuss muscular dystrophy 4, autosomal dominant 2022-05-29 criteria provided, single submitter clinical testing This sequence change replaces arginine, which is basic and polar, with threonine, which is neutral and polar, at codon 4913 of the SYNE1 protein (p.Arg4913Thr). In summary, the available evidence is currently insufficient to determine the role of this variant in disease. Therefore, it has been classified as a Variant of Uncertain Significance. Algorithms developed to predict the effect of missense changes on protein structure and function (SIFT, PolyPhen-2, Align-GVGD) all suggest that this variant is likely to be disruptive. ClinVar contains an entry for this variant (Variation ID: 498217). This variant has not been reported in the literature in individuals affected with SYNE1-related conditions. This variant is present in population databases (rs762212036, gnomAD 0.01%).
Athena Diagnostics Inc RCV000598392 SCV001476192 uncertain significance not provided 2020-03-09 criteria provided, single submitter clinical testing
Revvity Omics, Revvity RCV000598392 SCV003827032 uncertain significance not provided 2021-02-14 criteria provided, single submitter clinical testing

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